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UniProtKB/Swiss-Prot P12883: Variant p.Arg671Cys

Myosin-7
Gene: MYH7
Variant information

Variant position:  671
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Cysteine (C) at position 671 (R671C, p.Arg671Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CMH1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  671
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1935
The length of the canonical sequence.

Location on the sequence:   HRENLNKLMTNLRSTHPHFV  R CIIPNETKSPGVMDNPLVMH
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMH

                              HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVIDNPLVMH

Mouse                         HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMH

Rat                           HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMH

Pig                           HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVIDNPLVMH

Bovine                        HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVIDNPLVMH

Horse                         HRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVIDNPLVMH

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 1935 Myosin-7
Domain 85 – 778 Myosin motor
Region 655 – 677 Actin-binding
Beta strand 665 – 673


Literature citations

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P.; Charron P.; Carrier L.; Ledeuil C.; Cheav T.; Pichereau C.; Benaiche A.; Isnard R.; Dubourg O.; Burban M.; Gueffet J.-P.; Millaire A.; Desnos M.; Schwartz K.; Hainque B.; Komajda M.;
Circulation 107:2227-2232(2003)
Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382; MET-1692 AND THR-1777;

Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Mohiddin S.A.; Begley D.A.; McLam E.; Cardoso J.-P.; Winkler J.B.; Sellers J.R.; Fananapazir L.;
Genet. Test. 7:21-27(2003)
Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.